Cancer Doesn’t Run in My Family…Or Does It?

September 11, 2018 by Sue Friedman

There’s a common misperception that only people with many family members with cancer should have genetic testing for an inherited mutation. Yet, the facts (and guidelines) speak otherwise. There are many situations where a single case of cancer in a family may warrant an appointment with an expert known as a genetic counselor.

As a patient advocate who is very passionate about hereditary cancer, I have had my share of conversations with people about their family medical history. Casual small talk on airplanes, at conferences, even between sets on the tennis court have led to deeper discussions about cancer and genetic testing. Frequently, someone will mention a personal diagnosis or cancer in a relative that raises a big red-flag of a possible inherited genetic mutation. And yet, when I gently suggest genetic counseling, I’m often met with “I’ve already had cancer, how can testing help me now?” “The cancer is only on my father’s side,” and the commonly cited “Oh, I don’t need that, there really isn’t much cancer in my family.”

These comments remind me that more awareness is needed for people to understand the value of genetic counseling and testing to help them make informed medical decisions and improve their health outcomes.

I Have Little or No Family History

One revelation for people who have already been diagnosed with cancer, is that their own diagnosis—even in the absence of other relatives with cancer—may be sufficient to warrant genetic counseling and testing. Certainly, people with an extensive family history of cancer should consult with a genetics expert. But there are many circumstances where one or two cases of cancer may be sufficient to meet national guidelines for genetic counseling and testing.

My own situation is an example. The only cancer in my family was my paternal grandmother who died young of what was called “kidney cancer” which we now think was likely ovarian cancer. I was diagnosed “out of the blue” with breast cancer at age 33. Although I don’t have a profound family history of cancer, I also have a very small family. Fortunately, national guidelines take into account these situations. National guidelines recommend genetic counseling for any woman diagnosed with breast cancer at age 50 or younger and genetic testing after counseling for any woman diagnosed with triple-negative breast cancer before age 60, even those with no other family history. Every woman diagnosed with ovarian cancer at any age or stage, also meets national guidelines for counseling and testing. Every man diagnosed with breast cancer also meets guidelines for counseling and testing.

The National Comprehensive Cancer Network (NCCN)—a consortium of top experts—publishes consensus guidelines for genetic counseling, testing and risk management, which are updated annually. Here is a partial list of situations where just one cancer diagnosis is enough to warrant a referral to a genetics expert:

Breast cancer at any stage diagnosed at or before age 50

A diagnosis of ovarian cancer at any age or stage

Triple negative breast cancer (TNBC) diagnosed at age 60 or younger

Male breast cancer at any age or stage

Pancreatic cancer at any age or stage

Metastatic prostate cancer at any age

There are other circumstances that warrant genetic counseling and testing, including multiple cancer diagnoses in the same person, multiple members of the same side of the family diagnosed with cancer, and cancer in people of Ashkenazi Jewish descent. You can visit the FORCE website for more information on genetic counseling, testing and how to find a genetic expert. You can also speak to a trained peer support volunteer.

The Cancer is Only On My Dad’s Side

Men make up half of the mutation carriers for genes associated with adult-onset hereditary cancers. Men with BRCA and other mutations have a high risk for cancer, but often their lifetime cancer risk is lower than women with the same mutation. For this reason, families like mine—where the mutation was passed down by the father—may not have a profound family history of cancer. The mistaken belief that men cannot carry an inherited mutation associated with cancer is reinforced by common phrases and terms, such as calling BRCA1 the “Angelina Jolie gene” or calling BRCA1 and BRCA2 breast cancer genes. Even the term Hereditary Breast and Ovarian Cancer Syndrome (HBOC), which is used to describe BRCA, PALB2 and other related genes, dismisses the cancers associated with these genes that affect men, such pancreatic and prostate cancers.

Why It Matters

Genetic testing is a valuable tool that can help people with and without cancer make important medical decisions. For people who are newly-diagnosed with early stage breast cancer, knowing if you have a mutation can impact breast surgical decisions. For people with advanced breast and ovarian cancer, genetic test results may provide access to new agents called PARP inhibitors. Genetic testing may also qualify people for clinical trials for new drugs.

For those who have completed treatment for cancer and those who have never been diagnosed, genetic counseling and testing can provide information about risk for future cancers and open up options for early detection or prevention. It can help relatives understand and manage their risk for cancer, too.

Dr. Sue Friedman was diagnosed “out of the blue” at age 33 with breast cancer. At the time, she was unaware of familial risk factors for hereditary cancer. Reading an article about hereditary breast cancer after completing her treatment, Sue realized that she had several indications for a mutation. She pursued genetic counseling and, in 1997, tested positive for a BRCA2 mutation.

Shocked that her health care team didn’t alert her to the possibility of being at high risk, and disappointed at having to make critical treatment decisions while unaware of her mutation, Sue acted so others could benefit from her misfortune. She founded FORCE in 1999 to fill the information void for individuals and families with hereditary cancer and to help them advocate for themselves.